APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE


Toksoy G. , Karaman B. , Uyguner Z. O. , Yilmaz K., Has R. , Kayserili H., ...More

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.82, no.1, pp.5-11, 2019 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 82 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.26650/iuitfd.413596
  • Title of Journal : JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Page Numbers: pp.5-11

Abstract

Objective/Material and Method: Cryptic chromosomal imbalances contribute significantly to the etiology of multiple congenital anomalies with or without mental retardation (MCA/MR). Current approaches in prenatal diagnosis include targeted high resolution analyses by MLPA and some microarray platforms or a genomewide screening at maximal resolution using oligonucleotide or SNP arrays. The major disadvantages of the latter approach are cost and the inadvertent detection of copy number variation of unknown clinical significance.